Linked Data
ClinVar Variation Id:
1940508
ClinVar RCV Id:
RCV002639369
dbSNP Id:
rs1324687461
gnomAD v3:
11-74493259-C-G
gnomAD v4:
11-74493259-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74493259C>G , CM000673.2:g.74493259C>G | GRCh38 |
| NC_000011.9:g.74204304C>G , CM000673.1:g.74204304C>G | GRCh37 |
| NC_000011.8:g.73881952C>G | NCBI36 |
| NG_051333.1:g.5455G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310109.5:c.445G>C MANE Select | ENSP00000309463.4:p.Asp149His | |
| ENST00000310109.4:c.445G>C | ENSP00000309463.4:p.Asp149His | |
| ENST00000527115.1:c.57G>C | ||
| ENST00000528085.1:c.181+208G>C | ||
| NM_001144869.1:c.445G>C | NP_001138341.1:p.Asp149His | |
| XM_011545021.1:c.445G>C | XP_011543323.1:p.Asp149His | |
| NM_001144869.2:c.445G>C | NP_001138341.1:p.Asp149His | |
| NM_001329941.1:c.445G>C | NP_001316870.1:p.Asp149His | |
| NM_001329942.1:c.237+208G>C | NP_001316871.1:n.237+208G>C | |
| NM_001144869.3:c.445G>C MANE Select | NP_001138341.1:p.Asp149His | |
| NM_001329941.2:c.445G>C | NP_001316870.1:p.Asp149His | |
| NM_001329942.2:c.237+208G>C | NP_001316871.1:n.237+208G>C |